A case of Kabuki syndrome caused by KMT2D gene mutation
Objective To explore the clinical phenotype,gene variant types and diagnosis of genetic testing of Kabuki syndrome(KS).Methods The whole exon sequencing(WES)of peripheral blood of a child was performed and veri-fied with Sanger DNA sequencing.Results The proband was a girl aged 6 years and 5 months,who showed special facial features,developmental delay,convulsive seizures,abnormal electroencephalogram,and recurrent otitis media.WES showed KMT2D gene(NM003482)c.3094del,(p.Leu1032TrpfsTer24)mutation,which was a frameshift muta-tion.Sanger DNA sequencing results showed that the father and mother of the proband did not carry the KMT2D muta-tion,indicating that this mutation was a de novo one.According to the(American College of Medical Genetics and Ge-nomics,ACMG)mutation interpretation standard,the mutation was classified as PVS1+PS2+PM2,which was a patho-genic mutation of KS.Conclusion The child was diagnosed with KS type 1 caused by KMT2D gene mutation,which was autosomal dominant.Our study revealed that early diagnosis and intervention should be performed for suspected KS;for patients with no known genetic variation,clinical diagnosis should be confirmed according to international con-sensus criteria,follow-up and genetic counseling.This study enriched the genetic mutation spectrum of KS and provided a basis for the diagnosis and genetic counseling of this disease.
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